在9708个怀孕中,进行扩展的非侵入性产前检测,以检测胎儿动脉和副本数变异的结果
Feng Suo1,2, Jingjing Wang1, Mingming Liao1
1Xuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, China.
Molecular cytogenetics
|January 24, 2026
概括
扩展的非侵入性产前检测 (E-NIPT) 在一个大型的中国队列中,对常见的三症和性染色体形状呈现出高准确性. 然而,对拷贝数变异和罕见的自体形形状的积极结果需要仔细解释和遗传咨询.
科学领域:
- 遗传学 遗传学 是一个
- 产前诊断 在产前诊断
- 生殖健康 生殖健康
背景情况:
- 扩展的非侵入性产前检测 (E-NIPT) 查三症,性染色体形状 (SCAs),罕见的自体形状 (RAAs) 和副本数变异 (CNVs).
- 在中国大人口中,E-NIPT的临床性能数据有限.
- 这项研究评估了E-NIPT在实质性现实世界队列中的诊断准确性.
研究的目的:
- 评估 E-NIPT 的诊断性能.
- 描述E-NIPT的敏感性,特异性,正预测值 (PPV) 和负预测值 (NPV).
- 在中国人口中评估不同类别的染色体异常的E-NIPT.
主要方法:
- 在9708个怀孕中进行了以E-NIPT进行查的回顾性队列研究.
- 分析了192个查阳性病例.
- 通过染色体微阵列分析对158个病例进行侵入性诊断确认.
主要成果:
- 总体查阳性率为1.98%,总体PPV为32.3%.
- 对于21型,18型,13型和SCAs的优异灵敏度 (100%) 和高特异性.
- 观察到CNV的PPV适度 (14.6%) 和RAA的PPV低 (20.0%),其中一个CNV是假负的.
结论:
- 对于常见的三症和SCAs,E-NIPT具有很高的灵敏度和特异性.
- 较低的CNV和RAA的阳性预测值需要通过侵入性测试和遗传咨询来确认.
- E-NIPT是一个有价值的查工具,但积极的结果需要仔细解释和跟进.
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